Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs202088921
rs202088921
SLC22A5 ; MIR3936HG
0.800 GeneticVariation UNIPROT Functional and molecular studies in primary carnitine deficiency. 28841266

2017
dbSNP: rs202088921
rs202088921
SLC22A5 ; MIR3936HG
T 0.800 GeneticVariation CLINVAR Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands. 23653224

2014
dbSNP: rs202088921
rs202088921
SLC22A5 ; MIR3936HG
T 0.800 CausalMutation CLINVAR Primary Carnitine deficiency in the Faroe Islands: health and cardiac status in 76 adult patients diagnosed by screening. 23963628

2014
dbSNP: rs202088921
rs202088921
SLC22A5 ; MIR3936HG
T 0.800 CausalMutation CLINVAR Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands. 23653224

2014
dbSNP: rs202088921
rs202088921
SLC22A5 ; MIR3936HG
T 0.800 CausalMutation CLINVAR Carnitine uptake defect (primary carnitine deficiency): risk in genotype-phenotype correlation. 23520115

2013
dbSNP: rs202088921
rs202088921
SLC22A5 ; MIR3936HG
T 0.800 GeneticVariation CLINVAR Carnitine uptake defect (primary carnitine deficiency): risk in genotype-phenotype correlation. 23520115

2013
dbSNP: rs202088921
rs202088921
SLC22A5 ; MIR3936HG
T 0.800 CausalMutation CLINVAR Transient carnitine deficiency was not likely anymore and DNA mutation analysis of the OCTN2 (SLC22A5) gene showed a homozygous c.136C>T (p.P46S) mutation, confirming the diagnosis of primary carnitine deficiency. 23430798

2013
dbSNP: rs202088921
rs202088921
SLC22A5 ; MIR3936HG
T 0.800 GeneticVariation CLINVAR Transient carnitine deficiency was not likely anymore and DNA mutation analysis of the OCTN2 (SLC22A5) gene showed a homozygous c.136C>T (p.P46S) mutation, confirming the diagnosis of primary carnitine deficiency. 23430798

2013
dbSNP: rs202088921
rs202088921
SLC22A5 ; MIR3936HG
0.800 GeneticVariation UNIPROT Genotype-phenotype correlation in primary carnitine deficiency. 21922592

2012
dbSNP: rs202088921
rs202088921
SLC22A5 ; MIR3936HG
T 0.800 CausalMutation CLINVAR Primary Carnitine Deficiency Presents Atypically with Long QT Syndrome: A Case Report. 23430858

2012
dbSNP: rs202088921
rs202088921
SLC22A5 ; MIR3936HG
T 0.800 CausalMutation CLINVAR Genotype-phenotype correlation in primary carnitine deficiency. 21922592

2012
dbSNP: rs202088921
rs202088921
SLC22A5 ; MIR3936HG
T 0.800 GeneticVariation CLINVAR Genotype-phenotype correlation in primary carnitine deficiency. 21922592

2012
dbSNP: rs202088921
rs202088921
SLC22A5 ; MIR3936HG
T 0.800 GeneticVariation CLINVAR Glycosylation of the OCTN2 carnitine transporter: study of natural mutations identified in patients with primary carnitine deficiency. 21126579

2011
dbSNP: rs202088921
rs202088921
SLC22A5 ; MIR3936HG
T 0.800 CausalMutation CLINVAR Glycosylation of the OCTN2 carnitine transporter: study of natural mutations identified in patients with primary carnitine deficiency. 21126579

2011
dbSNP: rs202088921
rs202088921
SLC22A5 ; MIR3936HG
0.800 GeneticVariation UNIPROT Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects. 20027113

2010
dbSNP: rs202088921
rs202088921
SLC22A5 ; MIR3936HG
0.800 GeneticVariation UNIPROT Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening. 20074989

2010
dbSNP: rs202088921
rs202088921
SLC22A5 ; MIR3936HG
T 0.800 CausalMutation CLINVAR Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency. 20574985

2010
dbSNP: rs202088921
rs202088921
SLC22A5 ; MIR3936HG
T 0.800 CausalMutation CLINVAR Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects. 20027113

2010
dbSNP: rs202088921
rs202088921
SLC22A5 ; MIR3936HG
0.800 GeneticVariation UNIPROT Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency. 20574985

2010
dbSNP: rs202088921
rs202088921
SLC22A5 ; MIR3936HG
T 0.800 GeneticVariation CLINVAR Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency. 20574985

2010
dbSNP: rs202088921
rs202088921
SLC22A5 ; MIR3936HG
T 0.800 GeneticVariation CLINVAR Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects. 20027113

2010
dbSNP: rs202088921
rs202088921
SLC22A5 ; MIR3936HG
T 0.800 GeneticVariation CLINVAR Expanded newborn screening identifies maternal primary carnitine deficiency. 17126586

2007
dbSNP: rs202088921
rs202088921
SLC22A5 ; MIR3936HG
T 0.800 CausalMutation CLINVAR Expanded newborn screening identifies maternal primary carnitine deficiency. 17126586

2007
dbSNP: rs202088921
rs202088921
SLC22A5 ; MIR3936HG
0.800 GeneticVariation UNIPROT Expanded newborn screening identifies maternal primary carnitine deficiency. 17126586

2007
dbSNP: rs202088921
rs202088921
SLC22A5 ; MIR3936HG
0.800 GeneticVariation UNIPROT Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5). 16931768

2006